Поисковый запрос: (<.>S=ГЕТЕРОЗИГОТА<.>) |
Общее количество найденных документов : 20
Показаны документы с 1 по 20
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1.
| Tajima De novo mutation causes steroid 21-hydroxylase deficiency in one family of HLA-identical affected and unaffected siblings // J. Clin. Endocrinol. and Metab., 1993. Vol. 77, N 1.-С.86-89
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2.
| Severe haemophilia A in a female resulting from two de novo factor VIII mutations // Brit. J. Haematol., 1995. Vol. 90, N 4.-С.906-909
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3.
| Two novel mutations in the thyrotropin (TSH) receptor gene in a child with resistance to TSH // J. Clin. Endocrinol. and Metab., 1997. Vol. 82, N 4.-С.1094-1100
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4.
| Novel MODY3 mutations in the hepatocyte nuclear factor-1'альфа' gene: Evidence for a hyperexcitability of pancreatic 'бета'-cells to intravenous secretagogues in a glucose-tolerant carrier of a P447L mutation // Diabetes, 1997. Vol. 46, N 4.-С.726-730
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5.
| Hb Tak confirmed by DNA analysis: Not expressed as thalassemia in a Hb Tak/Hb E compound heterozygote // Hemoglobin, 1998. Vol. 22, N 1.-С.45-52
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6.
| Diagnostico pre-natal da talas-semia 'бета' // J. bras. patol., 1996. Vol. 32, N 3.-С.116-117
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7.
| Hemophilia B in a female carrier due to skewed inactivation of the normal X-chromosome // Amer. J. Hematol., 1998. Vol. 58, N 1.-С.72-76
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8.
| Novel frameshift mutation 840delA and a novel polymorphism D203A in the steroidogenic acute regulatory protein gene in a Japanese patient with congenital lipoid adrenal hyperplasia // Hum. Mutat., 1998, Suppl. n 1.-С.304-307
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9.
| HB Tak confirmed by DNA analysis: Not expressed as thalassemia in a Hb Tak/Hb E compound heterozygote // Trends Biochem. Sci., 1998. Vol. 23, N 5.-С.45-52
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10.
| A breast cancer patient of Scottish descent with germ-line mutations in BRCA1 and BRCA2 // Amer. J. Hum. Genet., 1998. Vol. 62, N 6.-С.1543-1544
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11.
| Molecular defects leading to human complement component C6 deficiency in an African-American family // Clin. and Exp. Immunol., 1998. Vol. 111, N 1.-С.91-96
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12.
| A novel single missense mutation identified along the RH50 gene in a composite heterozygous Rh[null] blood donor of the regulator type // Blood, 1998. Vol. 91, N 4.-С.1458-1463
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13.
| Transmission of two novel mutations in a pedigree with familial lecithin: cholesterol acyltransferase deficiency: Structure-function relationships and studies in a compound heterozygous proband // J. Lipid Res., 1998. Vol. 39, N 9.-С.1870-1876
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14.
| Rosenberg Michael K. Markedly prolonged paralysis after mivacurium in a patient apparently heterozygous for the atypical and usual pseudocholinesterase alleles by conventional biochemical testing // Anesth. and Analg., 1997. Vol. 84, N 2.-С.457-460
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15.
| Hypercalcaemia in glycogen storage disease type Ia: A case with R83H and 341delG mutations // J. Inherit. Metab. Disease, 1999. Vol. 22, N 8.-С.937-938
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16.
| Hb Douala ['альфа'3(A1)Ser'->'Phe]: A new 'альфа'1 gene mutation in a Cameroonian woman heterozygous for Hb S and a 3.7 kb deletional 'альфа'-thalassemia // Hemoglobin, 2001. Vol. 25, N 3.-С.323-329
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17.
| Two novel factor VII gene mutations in a Chinese family with factor VII deficiency // Brit. J. Haematol., 2000. Vol. 111, N 1.-С.143-145
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18.
| Heterozygous M3Mmalton 'альфа'[1]-antitrypsin deficiency associated with end-stage liver disease: Case report and review // Clin. Chem., 2001. Vol. 47, N 8.-С.1490-1496
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19.
| Влияние высокочастотного низкоинтенсивного облучения на репродуктивную функцию мышей линии C57Bl/6 и рандомбредных мышей // Бюл. эксперим. биол. и мед., 2004. Т. 138, N 12.-С.626-628
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20.
| Перевозкин В.П. Хромосомный полиморфизм малярийных комаров (Diptera, Culicidae) Приморского края // Вестн. ТГПУ, 2009, N 11.-С.181-185
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